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A practical guide to orient yourself in the labyrinth of genome databases
G Borsani1, A Ballabio, S Banfi
1Telethon Institute of Genetics and Medicine (TIGEM), San Raffaele Biomedical Science Park and Università Vita e Salute San Raffaele, Milan, Italy. borsani@tigem.it
Human Molecular Genetics
|September 15, 1998
Summary
The Human Genome Project revolutionized inherited disorder gene discovery using expressed sequence tags (ESTs). Future genomic data accessibility will further aid in identifying disease-related genes.
Area of Science:
- Genomics
- Human Genetics
- Bioinformatics
Background:
- The Human Genome Project has significantly advanced the identification of genes implicated in human inherited disorders.
- Over one million human expressed sequence tags (ESTs) have been generated, contributing to the partial identification of numerous human genes.
Purpose of the Study:
- To demonstrate how current genomic information can be effectively utilized for identifying candidate genes in human diseases.
- To highlight the need for improved accessibility of genomic data.
Main Methods:
- Leveraging publicly available expressed sequence tag (EST) data.
- Utilizing genomic databases for information retrieval.
- Applying practical examples to illustrate gene identification strategies.
Main Results:
- Expressed sequence tags (ESTs) have been instrumental in identifying a substantial proportion of human genes.
- Genomic databases contain valuable information for disease gene discovery.
- Information retrieval from genomic databases remains challenging despite ongoing efforts.
Conclusions:
- The completion of human genome sequencing will usher in a new era of genetic discovery.
- Enhanced accessibility of genomic data is crucial for realizing its full potential.
- Effective exploitation of available genomic resources can accelerate the identification of candidate genes for inherited disorders.